ClinVar Genomic variation as it relates to human health
GRCh37/hg19 13q31.3-33.2(chr13:93535335-105788229)x1
Germline
Classification
(1)
Pathogenic
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
ZIC2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
336 | 480 | |
ABCC4 | - | - |
GRCh38 GRCh37 |
73 | 165 | |
BIVM | - | - |
GRCh38 GRCh37 |
- | 112 | |
BIVM-ERCC5 | - | - | - |
GRCh38 GRCh37 |
- | 537 |
CCDC168 | - | - | - |
GRCh38 GRCh37 |
481 | 582 |
CLDN10 | - | - |
GRCh38 GRCh37 |
38 | 127 | |
CLYBL | - | - |
GRCh38 GRCh37 |
1 | 127 | |
DCT | - | - |
GRCh38 GRCh37 |
57 | 146 | |
DNAJC3 | - | - |
GRCh38 GRCh37 |
52 | 138 | |
DOCK9 | - | - |
GRCh38 GRCh37 |
102 | 204 |
There are 32 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jun 13, 2022 | RCV002473593.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 23, 2024